A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488743



Internal ID22546660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180232279..180238244hg38UCSC Ensembl
chr2:181097006..181102971hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg385966
hg195966
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832071
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488743
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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